Abstract
Haddad syndrome is a rare genetically conditioned disease. We present a female newborn with congenital central hypoventilation syndrome associated with Hirschprung's disease. The infant is mechanically ventilated and parentally fed in a home setting. The diagnosis has been confirmed by the presence of 20/26 PHOX2B genetic mutation.
MeSH terms
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Female
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Homeodomain Proteins / genetics
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Humans
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Hypoventilation / congenital*
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Hypoventilation / diagnosis
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Hypoventilation / genetics
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Hypoventilation / therapy
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Infant, Newborn
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Mutation
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Sleep Apnea, Central / diagnosis*
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Sleep Apnea, Central / genetics
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Sleep Apnea, Central / therapy
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Transcription Factors / genetics
Substances
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Homeodomain Proteins
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NBPhox protein
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Transcription Factors
Supplementary concepts
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Congenital central hypoventilation syndrome